Results 21 to 30 of about 97,768,729 (189)

Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient

Clinica Chimica Acta, 2008
Molecular investigations of iduronate-2-sulfatase (IDS) mutants for the X-linked lysosomal storage disease mucopolysaccharidosis type II (MPS II, Hunter disease), commonly depends on transient expression studies to verify a single nucleotide change to be pathogenic.
Lam, CW, Lau, KC
openaire   +5 more sources

RNF13 is a previously undescribed interactor of iduronate 2-sulfatase that modifies its glycosylation and maturation. [PDF]

FEBS J
Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Cabana VC, Bouchard AY, Sénécal AM, Cappadocia L, Lussier MP.   +4 more
europepmc   +2 more sources

Iduronate-2-Sulfatase With Anti-Human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial [PDF]

Molecular Therapy, 2019
Yuji Sato, Torayuki Okuyama, Norio Sakai
exaly   +2 more sources

Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil. [PDF]

Mol Ther, 2021
In Hunter syndrome (mucopolysaccharidosis II [MPS-II]),systemic accumulation of glycosaminoglycans (GAGs) dueto a deficiency of iduronate-2-sulfatase (IDS), caused by mu-tations in theIDSgene, leads to multiple somatic manifesta-tions and in patients ...
Giugliani R, Martins AM, So S, Yamamoto T, Yamaoka M, Ikeda T, Tanizawa K, Sonoda H, Schmidt M, Sato Y.   +9 more
europepmc   +3 more sources

Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus [PDF]

Therapeutic Advances in Rare Disease
Hunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
Anna Kulpanovich
doaj   +2 more sources

Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice. [PDF]

Mol Pharm, 2023
Mucopolysaccharidoses (MPSs) make up a group of lysosomal storage diseases characterized by the aberrant accumulation of glycosaminoglycans throughout the body.
Imakiire A, Morimoto H, Suzuki H, Masuda T, Yoden E, Inoue A, Morioka H, Konaka T, Mori A, Shirasaka R, Kato R, Hirato T, Sonoda H, Minami K.   +13 more
europepmc   +2 more sources

Iduronate-2-Sulfatase-Regulated Dermatan Sulfate Levels Potentiate the Invasion of Breast Cancer Epithelia Through Collagen Matrix [PDF]

Journal of Clinical Medicine, 2019
Ramray Bhat, Keshav Kumar Jha, Varun Raghunathan   +2 more
exaly   +2 more sources

Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys.
Nato D. Vashakmadze, Natalya V. Zhurkova, Olga B. Gordeeva, Elena V. Komarova, Tatyana E. Privalova, Anastasya I. Rykunova, Marina А. Babaykina   +6 more
doaj   +1 more source

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up. [PDF]

J Inherit Metab Dis
ABSTRACT This study investigated long‐term cognitive development and genotype–phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow‐up since 2007.
Holdorp JJ, Kruijshaar MEM, Vollebregt AAMA, Rietman ABA, Dijkstra MRKM, Klees CC, Wagenmakers MM, Nguyen AHPA, Oussoren EE, van der Ploeg ATA, van den Hout JMPH.   +10 more
europepmc   +2 more sources

Gene therapy for cross-correction of somatic organs and the CNS in mucopolysaccharidosis II in rodents and non-human primates

Molecular Therapy: Methods & Clinical Development, 2023
Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by deficient activity of iduronate-2-sulfatase (I2S), leading to pathological accumulation of glycosaminoglycans (GAGs) in tissues. We used iduronate-2-sulfatase knockout
Nancy Chen, David E. Ehmann, Robert Crooker, Katayoun Derakhchan, Xiaodong Fang, Brian Felice, Elizabeth J. Galbreath, Charles Glaus, Hongbo Gu, Yan Huang, Christine Li, Xing Li, Nan Liu, Kathleen Palmieri, Damir Simic, Joseph Sypek, Susan Thompson, Christopher T. Winkelmann, Vivian W. Choi   +18 more
doaj   +1 more source